Pediheart Podcast # 71: CPVT and The "VUS" - Rescuing Missense Variants From "Genetic Purgatory"
7 giu 2019 ·
52 min. 14 sec.
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Descrizione
In this special episode # 71 co-presented with the SADS Foundation (SADS.ORG) we speak with the president of the foundation, Professor Michael Ackerman of The Mayo Clinic about a recent...
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In this special episode # 71 co-presented with the SADS Foundation (SADS.ORG) we speak with the president of the foundation, Professor Michael Ackerman of The Mayo Clinic about a recent work he co-authored on a novel approach to assessing patients with possible CPVT. How should the phenotype help to inform genotype results? Can a novel CPVT scorecard help to improve our understanding of genetic test results? How are genes determined to be 'benign', 'likely disease causing' or a variant of uncertain significance (VUS)? We discuss these issues and more with Dr. Ackerman who provides great insights into this fascinating topic that affects all cardiologists who use genetic testing as part of their practice. doi: 10.1161/CIRCGEN.119.002510
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Informazioni
| Autore | Robert Pass |
| Organizzazione | Robert Pass |
| Sito | - |
| Tag |
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